Abstract:
Hypereosinophilic syndrome (HES) is a rare condition characterized by elevated eosinophil counts (>1.5 x 109 on two consecutive measurements), which are of myeloid clonal in origin or are driven by excess cytokines. One subtype of HES exhibits the Fip1-like 1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) fusion gene, a gain-of-function mutation resulting in a hyperactive tyrosine kinase. HES, especially the FIP1L1-PDGFRA variant, exhibits an excellent response to chemotherapy with imatinib. In this report, we present a 38-year-old patient with no contributory past medical history who experienced sudden-onset fatigue, ataxia, visual changes, and headaches. He was found to have multiple small acute infarcts in his cerebrum and cerebellum. A stroke work-up, including transthoracic echocardiogram (TTE), transesophageal echocardiogram (TEE), and computed tomography angiography (CTA), did not yield insight into the origin of his infarcts. On CBC, he was consistently hypereosinophilic, and a bone marrow biopsy revealed hypercellularity and the FIP1L1-PDGFRA fusion gene, confirming the diagnosis of HES. The patient was treated first with methylprednisolone and then imatinib with excellent response. It appears that, in our patient, strokes were not of a thromboembolic nature but rather due to hypercoagulability. In this report, we advocate for considering HES and emphasize the importance of revisiting basic laboratory studies such as a CBC if the standard stroke workup fails to elucidate the mechanism behind ischemic strokes with an embolic pattern.
摘要:
嗜酸性粒细胞增多综合征(HES)是一种罕见的疾病,其特征是嗜酸性粒细胞计数升高(两次连续测量>1.5×109)。它们是骨髓克隆起源的或由过量的细胞因子驱动的。HES的一种亚型表现出Fip1样1-血小板衍生生长因子受体α(FIP1L1-PDGFRA)融合基因,导致酪氨酸激酶过度活跃的功能获得突变。HES,尤其是FIP1L1-PDGFRA变体,对伊马替尼化疗表现出优异的反应。在这份报告中,我们介绍了一名38岁的患者,没有任何贡献的既往病史,他经历了突发性疲劳,共济失调,视觉变化,和头痛。发现他的大脑和小脑有多个小的急性梗塞。中风后处理,包括经胸超声心动图(TTE),经食管超声心动图(TEE),和计算机断层扫描血管造影(CTA),没有深入了解他的梗塞的起源。在CBC上,他一直是嗜酸性粒细胞增多,骨髓活检显示细胞增多和FIP1L1-PDGFRA融合基因,确认HES的诊断。患者首先用甲基强的松龙治疗,然后用伊马替尼治疗,反应良好。看来,在我们的病人身上,卒中不是血栓栓塞性质,而是由于高凝所致.在这份报告中,我们主张考虑HES,并强调如果标准卒中检查未能阐明具有栓塞模式的缺血性卒中背后的机制,则重新审视CBC等基础实验室研究的重要性.